G E Graham
Overview
Explore the profile of G E Graham including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
337
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Recent Articles
1.
Kushnir I, Kirk L, Mallick R, Kim R, Graham G, Breau R, et al.
Clin Oncol (R Coll Radiol)
. 2019 Aug;
32(1):e10-e15.
PMID: 31378448
Aims: To evaluate the clinical impact of the Canadian criteria for identifying patients and families at risk for hereditary renal cell carcinoma (RCC). Materials And Methods: The Canadian hereditary RCC...
2.
Sawyer S, Hartley T, Dyment D, Beaulieu C, Schwartzentruber J, Smith A, et al.
Clin Genet
. 2015 Aug;
89(3):275-84.
PMID: 26283276
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis...
3.
Nowaczyk M, Thompson B, Zeesman S, Moog U, Sanchez-Lara P, Magoulas P, et al.
Clin Genet
. 2013 Feb;
85(2):138-46.
PMID: 23379592
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial...
4.
Kogan C, Boutet I, Cornish K, Graham G, Berry-Kravis E, Drouin A, et al.
J Intellect Disabil Res
. 2008 Dec;
53(2):125-42.
PMID: 19054268
Background: Standardised neuropsychological and cognitive measures present some limitations in their applicability and generalisability to individuals with intellectual disability (ID). Alternative approaches to defining the cognitive signatures of various forms...
5.
Vallee D, Chevrier E, Graham G, Lazzaro M, Lavigne P, Hunter A, et al.
J Med Genet
. 2004 Oct;
41(10):778-83.
PMID: 15466013
No abstract available.
6.
Lowry R, Jabs E, Graham G, Gerritsen J, FLEMING J
Am J Med Genet
. 2001 Dec;
104(2):112-9.
PMID: 11746040
A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et...
7.
Graham G, Graham L, Bridge P, Maclaren L, Wolff JEA , Coppes M, et al.
Pediatr Res
. 2000 Aug;
48(2):227-32.
PMID: 10926299
Familial hemophagocytic lymphohistiocytosis (FHLH; MIM #267700) is an autosomal recessive disorder of immune regulation characterized by fever, hepatosplenomegaly, and cytopenia that is fatal without bone marrow transplantation. Recent studies have...
8.
Graham G, Allanson J
Am J Med Genet
. 1999 Aug;
86(1):20-6.
PMID: 10440824
We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal...
9.
Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, et al.
Am J Hum Genet
. 1999 May;
64(6):1570-9.
PMID: 10330344
Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation....
10.
Elliott A, Graham G, Bernstein M, Mazer B, Teebi A
Am J Med Genet
. 1999 Mar;
83(3):178-82.
PMID: 10096592
We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported...